Ohno K - Search Results

1

The spectrum of mutations causing end-plate acetylcholinesterase deficiency.

Ohno K, Engel AG, Brengman JM, Shen XM, Heidenreich F, Vincent A, Milone M, Tan E, Demirci M, Walsh P, Nakano S, Akiguchi I. Ohno K, et al. Ann Neurol. 2000 Feb;47(2):162-70. Ann Neurol. 2000. PMID: 10665486

2

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

Ohno K, Brengman JM, Felice KJ, Cornblath DR, Engel AG. Ohno K, et al. Am J Hum Genet. 1999 Sep;65(3):635-44. doi: 10.1086/302551. Am J Hum Genet. 1999. PMID: 10441569 Free PMC article.

3

Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.

Quiram PA, Ohno K, Milone M, Patterson MC, Pruitt NJ, Brengman JM, Sine SM, Engel AG. Quiram PA, et al. Among authors: ohno k. J Clin Invest. 1999 Nov;104(10):1403-10. doi: 10.1172/JCI8179. J Clin Invest. 1999. PMID: 10562302 Free PMC article.

4

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.

Shapira YA, Sadeh ME, Bergtraum MP, Tsujino A, Ohno K, Shen XM, Brengman J, Edwardson S, Matoth I, Engel AG. Shapira YA, et al. Among authors: ohno k. Neurology. 2002 Feb 26;58(4):603-9. doi: 10.1212/wnl.58.4.603. Neurology. 2002. PMID: 11865139

5

Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.

Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG. Shen XM, et al. Among authors: ohno k. Neurology. 2002 Dec 24;59(12):1881-8. doi: 10.1212/01.wnl.0000042422.87384.2f. Neurology. 2002. PMID: 12499478

6

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannaccone ST, Harper CM, Engel AG. Milone M, et al. Among authors: ohno k. Neurology. 2009 Jul 21;73(3):228-35. doi: 10.1212/WNL.0b013e3181ae7cbc. Neurology. 2009. PMID: 19620612 Free PMC article.

7

End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.

Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC. Engel AG, et al. Among authors: ohno k. Ann Neurol. 1996 Nov;40(5):810-7. doi: 10.1002/ana.410400521. Ann Neurol. 1996. PMID: 8957026

8

Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit.

Milone M, Wang HL, Ohno K, Prince R, Fukudome T, Shen XM, Brengman JM, Griggs RC, Sine SM, Engel AG. Milone M, et al. Among authors: ohno k. Neuron. 1998 Mar;20(3):575-88. doi: 10.1016/s0896-6273(00)80996-4. Neuron. 1998. PMID: 9539130 Free article.

9

Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene.

Milone M, Ohno K, Fukudome T, Shen XM, Brengman J, Griggs RC, Engel AG. Milone M, et al. Among authors: ohno k. Ann N Y Acad Sci. 1998 May 13;841:184-8. doi: 10.1111/j.1749-6632.1998.tb10925.x. Ann N Y Acad Sci. 1998. PMID: 9668237 No abstract available.

10

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.

Ohno K, Brengman J, Tsujino A, Engel AG. Ohno K, et al. Proc Natl Acad Sci U S A. 1998 Aug 4;95(16):9654-9. doi: 10.1073/pnas.95.16.9654. Proc Natl Acad Sci U S A. 1998. PMID: 9689136 Free PMC article.

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